Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.169552593A=CA1206146806F5c.1260T= (p.Gly420=)
c.849T= (p.Gly283=)
1g.169552593A>CCA421732510F5c.1260T>G (p.Gly420=)
c.849T>G (p.Gly283=)
1g.169552593A>GCA421732511F5c.1260T>C (p.Gly420=)
c.849T>C (p.Gly283=)
 dbSNP gnomAD v3 gnomAD v4
1g.169552593A>TCA421732512F5c.1260T>A (p.Gly420=)
c.849T>A (p.Gly283=)
1g.169552594C>ACA343127939F5c.1259G>T (p.Gly420Val)
c.848G>T (p.Gly283Val)
1g.169552594C>GCA343127940F5c.1259G>C (p.Gly420Ala)
c.848G>C (p.Gly283Ala)
1g.169552594C>TCA343127961F5c.1259G>A (p.Gly420Asp)
c.848G>A (p.Gly283Asp)
1g.169552595C>ACA343127965F5c.1258G>T (p.Gly420Cys)
c.847G>T (p.Gly283Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.169552595C=CA1206146809F5c.1258G= (p.Gly420=)
c.847G= (p.Gly283=)
1g.169552595C>GCA343127977F5c.1258G>C (p.Gly420Arg)
c.847G>C (p.Gly283Arg)
1g.169552595C>TCA343127978F5c.1258G>A (p.Gly420Ser)
c.847G>A (p.Gly283Ser)
1g.169552596C>ACA343127993F5c.1257G>T (p.Leu419Phe)
c.846G>T (p.Leu282Phe)
1g.169552596C>GCA343127979F5c.1257G>C (p.Leu419Phe)
c.846G>C (p.Leu282Phe)
 dbSNP gnomAD v3 gnomAD v4
1g.169552596C>TCA421732513F5c.1257G>A (p.Leu419=)
c.846G>A (p.Leu282=)
1g.169552597A>CCA343128000F5c.1256T>G (p.Leu419Trp)
c.845T>G (p.Leu282Trp)
1g.169552597A>GCA343128008F5c.1256T>C (p.Leu419Ser)
c.845T>C (p.Leu282Ser)
1g.169552597A>TCA343128007F5c.1256T>A (p.Leu419Ter)
c.845T>A (p.Leu282Ter)
1g.169552600dupCA2649036043F5c.1256dup (p.Leu419PhefsTer26)
c.845dup (p.Leu282PhefsTer26)
 gnomAD v4
1g.169552598A>CCA343128009F5c.1255T>G (p.Leu419Val)
c.844T>G (p.Leu282Val)
1g.169552598A>GCA421732514F5c.1255T>C (p.Leu419=)
c.844T>C (p.Leu282=)
1g.169552598A>TCA343128010F5c.1255T>A (p.Leu419Met)
c.844T>A (p.Leu282Met)
1g.169552599A>CCA343128011F5c.1254T>G (p.Ile418Met)
c.843T>G (p.Ile281Met)
1g.169552599A>GCA421732515F5c.1254T>C (p.Ile418=)
c.843T>C (p.Ile281=)
1g.169552599A>TCA421732516F5c.1254T>A (p.Ile418=)
c.843T>A (p.Ile281=)
1g.169552600A=CA1206146812F5c.1253T= (p.Ile418=)
c.842T= (p.Ile281=)
1g.169552600A>CCA343128013F5c.1253T>G (p.Ile418Ser)
c.842T>G (p.Ile281Ser)
1g.169552600A>GCA1234384F5c.1253T>C (p.Ile418Thr)
c.842T>C (p.Ile281Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.169552600A>TCA343128016F5c.1253T>A (p.Ile418Asn)
c.842T>A (p.Ile281Asn)
1g.169552601T>ACA343128035F5c.1252A>T (p.Ile418Phe)
c.841A>T (p.Ile281Phe)
1g.169552601T>CCA343128041F5c.1252A>G (p.Ile418Val)
c.841A>G (p.Ile281Val)
 dbSNP
1g.169552601T>GCA343128045F5c.1252A>C (p.Ile418Leu)
c.841A>C (p.Ile281Leu)
1g.169552601T=CA1206146817F5c.1252A= (p.Ile418=)
c.841A= (p.Ile281=)
1g.169552602C>ACA421732517F5c.1251G>T (p.Gly417=)
c.840G>T (p.Gly280=)
1g.169552602C>GCA421732518F5c.1251G>C (p.Gly417=)
c.840G>C (p.Gly280=)
 gnomAD v4
1g.169552602C>TCA421732519F5c.1251G>A (p.Gly417=)
c.840G>A (p.Gly280=)
1g.169552603C>ACA343128049F5c.1250G>T (p.Gly417Val)
c.839G>T (p.Gly280Val)
1g.169552603C>GCA343128052F5c.1250G>C (p.Gly417Ala)
c.839G>C (p.Gly280Ala)
1g.169552603C>TCA343128055F5c.1250G>A (p.Gly417Glu)
c.839G>A (p.Gly280Glu)
1g.169552604C>ACA343128062F5c.1249G>T (p.Gly417Trp)
c.838G>T (p.Gly280Trp)
1g.169552604C>GCA343128067F5c.1249G>C (p.Gly417Arg)
c.838G>C (p.Gly280Arg)
1g.169552604C>TCA343128069F5c.1249G>A (p.Gly417Arg)
c.838G>A (p.Gly280Arg)
1g.169552605A>CCA343128071F5c.1248T>G (p.Asp416Glu)
c.837T>G (p.Asp279Glu)
1g.169552605A>GCA421732520F5c.1248T>C (p.Asp416=)
c.837T>C (p.Asp279=)
1g.169552605A>TCA343128073F5c.1248T>A (p.Asp416Glu)
c.837T>A (p.Asp279Glu)
1g.169552606T>ACA343128075F5c.1247A>T (p.Asp416Val)
c.836A>T (p.Asp279Val)
1g.169552606T>CCA343128078F5c.1247A>G (p.Asp416Gly)
c.836A>G (p.Asp279Gly)
1g.169552606T>GCA343128090F5c.1247A>C (p.Asp416Ala)
c.836A>C (p.Asp279Ala)
1g.169552610_169552612delCA2649036050F5c.1245_1247del (p.Glu415del)
c.834_836del (p.Glu278del)
 gnomAD v4
1g.169552607C>ACA343128100F5c.1246G>T (p.Asp416Tyr)
c.835G>T (p.Asp279Tyr)
1g.169552607C>GCA343128104F5c.1246G>C (p.Asp416His)
c.835G>C (p.Asp279His)

Number of alleles fetched